← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 22-23181524-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23181524&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23181524,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004327.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "NM_004327.4",
"protein_id": "NP_004318.3",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1271,
"cds_start": 564,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 6783,
"mane_select": "ENST00000305877.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004327.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000305877.13",
"protein_id": "ENSP00000303507.8",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 1271,
"cds_start": 564,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 6783,
"mane_select": "NM_004327.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305877.13"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000359540.7",
"protein_id": "ENSP00000352535.3",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 1227,
"cds_start": 564,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359540.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000928588.1",
"protein_id": "ENSP00000598647.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1278,
"cds_start": 564,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928588.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000958107.1",
"protein_id": "ENSP00000628166.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1277,
"cds_start": 564,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958107.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000958109.1",
"protein_id": "ENSP00000628168.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1269,
"cds_start": 564,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958109.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000928587.1",
"protein_id": "ENSP00000598646.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1267,
"cds_start": 564,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928587.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000928586.1",
"protein_id": "ENSP00000598645.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1254,
"cds_start": 564,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 6709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928586.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "NM_021574.3",
"protein_id": "NP_067585.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1227,
"cds_start": 564,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 6651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021574.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000958108.1",
"protein_id": "ENSP00000628167.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1174,
"cds_start": 564,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"hgvs_c": "n.129+1692G>C",
"hgvs_p": null,
"transcript": "ENST00000479188.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479188.5"
}
],
"gene_symbol": "BCR",
"gene_hgnc_id": 1014,
"dbsnp": "rs781405173",
"frequency_reference_population": 6.8466045e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8466e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.181,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004327.4",
"gene_symbol": "BCR",
"hgnc_id": 1014,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Leu188Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}